Getting Serious About Personal Genomics’ Risks
After several months of public drama, the University of California, Berkeley’s ambitious program to introduce its incoming freshmen to personalized medicine reached its denouement in late August.
As part of its program, Berkeley offered students the option to participate in genetic testing for three common genetic variants relevant to the body’s ability to metabolize milk products, alcohol and folic acid. The University’s original plan was to allow students to elect to receive the results of their tests as part of the program. Two weeks ago, however, the California Department of Public Health (CDPH) ruled that if Berkeley wanted to return personalized genetic data to some of its freshmen, the testing must be conducted at the direction of a physician and performed by a licensed clinical laboratory. The significant logistical burden and cost of complying with the CDPH’s ruling forced Berkeley to modify its program. While some aspects of the program will go forward, no student will be able to access any personalized genetic information.
(CDPH’s ruling was unexpected. Berkeley’s Dean of Biological Sciences, Mark Schlissel, noted that the department’s ruling “relies on an interpretation of legal statutes that is entirely different from the interpretation of the same statutes by UC’s top lawyers.” The ruling itself has potentially significant implications for genetic research across the country, although that topic is the subject for a future post.)
The focus of this post is the rapid mobilization of critics of the Berkeley program and the power of public controversy to spur regulatory action and, ultimately, to force the University to adopt a fundamentally different approach to personal genomics education than originally intended. This in spite of a detailed internal review process that consumed substantial resources and required Berkeley’s Institutional Review Board (IRB) to approve the project. Examining how and why this happened is instructive for evaluating the future prospects of personal genomics research and innovation.
Welcome to Genomes Unzipped
I’m pleased to announce the beta launch of a new community resource for personal genomics, Genomes Unzipped.
I’ve been working with a group of colleagues on this project for quite a while now. Some of the group members will be familiar to regular readers of the Genomics Law Report, including Daniel MacArthur from Genetic Future, Luke Jostins from Genetic Inference and Caroline Wright from the PHG Foundation. Others are new to the online personal genomics community, but have scientific training in genomic analysis, statistical genetics and other fields that allow them to offer valuable insight into personal genomics issues. We’ll be adding more names to that list over the next few weeks.
The Havasupai Indians and the Challenge of Informed Consent for Genomic Research
Pulitzer Prize-winning journalist Amy Harmon, of The New York Times, reports that a long-running dispute between Arizona State University (ASU) and the Havasupai Indians over the allegedly improper research use of DNA from members of the tribe has been settled.
The research began two decades ago, ostensibly to search for a genetic variant that might be contributing to the increasing rate of diabetes in the tribe. The diabetes research proved unfruitful, but the blood donated by the Havasupai tribe members, and the DNA extracted from it, led to a number of follow-on research projects, grants and publications. It was that research – including searching tribe members’ DNA for variants linked to schizophrenia, and inferring the likely ancestral origins of the tribe’s founders – that led to lawsuits, millions in legal fees and, ultimately, the settlement.
Implications of the Havasupai Settlement. Harmon’s article provides a concise background to the dispute, and briefly describes the $700,000 settlement between ASU and the tribe to “remedy the wrong that was done.” Harmon and unnamed “legal experts” suggest that the settlement is significant because “it implied that the rights of research subjects can be violated when they are not fully informed about how their DNA might be used.”
In some respects, this is a trivial conclusion. One of the most important and well-known elements of the Common Rule – the regulatory regime that governs federally-funded human subjects research – is that researchers must seek, and participants provide, informed consent. Participants that are uninformed cannot provide valid consent and, thus, their rights as subjects are violated. In that respect, at least, the Havasupai case tells us nothing new. (I have not seen the settlement, but I doubt that it will (a) be made public or (b) contain an express admission of guilt from ASU, both factors that will limit its relevance to future similar scenarios.)
What the FCC’s Broadband Report Means for Genomics and Personalized Medicine
The Federal Communications Commission’s (FCC) National Broadband Plan was released to Congress today. (Depending on your perspective, that’s either one day ahead or 30 days behind schedule.) What, you might ask, does a broadband report prepared by an agency better known for handing out fines in the aftermath of wardrobe malfunctions have to say that could possibly interest the Genomics Law Report?
For most of the broadband plan’s 376 pages (pdf) the answer is “nothing at all.” However, Chapter 10 focuses on Health Care (pdf), with several discussions of potential relevance to the future of genomics and personalized medicine, at least in the United States. The bulk of the chapter is devoted to issues of indisputable importance – e-care, health IT, mobile and rural healthcare delivery, for instance – that will be capably covered elsewhere. (mobihealthnews, for instance, is already providing coverage of aspects of the plan that will impact mobile health care: here and here.) However, Section 10.4 (“Unlocking the Value of Data”) offers up two important themes that are relevant to how at least one government agency views the future of genomics and personalized medicine.
What ELSI was New? Plenty.
From October 5 to December 8, 2009, the Genomics Law Report featured a series of thirty-six guest commentaries by industry, academic and thought leaders in the fields of genomics and personalized medicine. Entitled What ELSI is New?, the series, which we have organized into an e-book (pdf), asked each contributor to briefly respond to the following question: “What do you believe is the most important ethical, legal or social issue (ELSI) that must be addressed by the fields of genomics and/or personalized medicine?”
For better or worse, that’s where the instructions ended. The invited contributors identified the ELSI of their choice and discussed (or not) their rationale for so selecting as they saw fit. In addition to refraining from substantive editing, we intentionally avoided coordinating commentaries. Although we encouraged independent submissions from a variety of contributors and deprived them of any advance knowledge of what others in the series would say, one of our hopes was that consensus would begin to form around certain key ethical, legal and social issues.
To some degree this occurred. In collecting the series for the convenience of readers who would like to have all of the contributions in one place (pdf), we have ultimately settled on six broad topic headings for the commentaries
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Completing the Personal Genomics Toolkit
The big news buzzing through the world of genomics this afternoon is the publication of a paper in the journal Science announcing the production of three whole-genome sequences at an average materials cost of $4,400. The work was performed by the third-generation sequencing company Complete Genomics Incorporated, along with researchers from George Church’s lab at Harvard Medical School.
The Race for the $1,000 Genome
Erika Check Hayden of Nature’s blog The Great Beyond has an excellent summary of the Complete announcement in which she also attempts to head off some of the inevitable media hype:
Complete’s $4,400 price tag doesn’t include costs for the company’s infrastructure, such as its Silicon Valley data farm and the army of analysts and technicians required to make sense of the data; the company lists more than 60 employees in this paper’s author list. The company is actually selling genomes at $20,000 apiece in minimum orders of five; costs go down as the order size increases. That puts it slightly behind the schedule it set at its launch; the $5,000 genomes won’t be available until next year.
The announcement from Complete Genomics is hardly unexpected. At its launch last fall the company promised that it would deliver $5,000 genomes (and 1,000 of them, not just 3) by the end of 2009.
From a personal genomics standpoint, there is no question that Complete is a viable contender in the race to deliver affordable, individual whole-genome sequences. Spurred by competition from the likes of IBM, Illumina, Pacific Biosciences, Oxford Nanopore and others, the $1,000 genome continues to draw closer. It is no longer a question of if but when that magic number will be attained.
But while the $1,000 genome competition makes for an exciting horserace, the real focus of today’s announcement should be not on how much a genome sequence costs, but on what you can (or cannot) do with that sequence.
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Enabling Responsible Public Genomics
In the few short months since its launch, we’ve found the Genomics Law Report to be a flexible forum for discussing the legal implications of current developments in the fields of genomics and personalized medicine. Often what reaches the pages of the GLR, however, represents only the highlights from more detailed research and analysis that we undertake in order to thoroughly understand these issues and accurately advise our clients.
We have collected some of that more detailed research and analysis in a law review article, “Enabling Responsible Public Genomics,” to be published next spring in the journal Health Matrix: Journal of Law-Medicine. Here’s the abstract for the article:
Co-Founder Linda Avey Leaves 23andMe to Start New Alzheimer’s Foundation
DTC genomics company 23andMe announced late Friday afternoon that co-founder Linda Avey was leaving the personal genomics start-up, effective immediately, to begin work on a new foundation focusing on Alzheimer’s disease. Kara Swisher at BoomTown has the full scoop, including copies of internal emails to 23andMe employees from both Linda Avey and the company’s other co-founder, Anne Wojcicki.
The announcement is certainly fertile ground for speculation. Avey’s own email begins by recognizing “that [23andMe] has reached a critical point in its growth where new leadership can take it to the successful heights we all think it can achieve.” Which at least prompts the question: Was there some element of the old leadership (i.e., Avey and Wojicki) that was deemed incapable of reaching those heights? There has been no public indication that the move is related to 23andMe’s current financing round, which has included investments from Sergey Brin, Google’s co-founder and Wojcicki’s husband, and from Google itself.
Leveraging the Crowd to Understand Your Genome
Earlier this week Peter Aldhous of NewScientist magazine recounted an unusual experience with DTC genomics provider Decode Genetics. In reviewing his genetic data on the deCODEme website, Aldhous uncovered what appeared to be significant and bizarre errors in his mitochondrial DNA. Aldhous turned to Blaine Bettinger, The Genetic Genealogist, for help in diagnosing the problem with his mitochondrial DNA. Bettinger’s response: “This is a strange question, but are you sure this is Homo sapiens?”
Aldous, Bettinger and Decode investigated the problem and ultimately determined that the “errors” in the mitochondrial DNA were actually being introduced by a bug in the deCODEme software interface that allows users to browse their data. (Aldhous carefully points out that the software glitch was a rare one and that it did not seem to affect deCODEme’s disease-risk summaries or analysis.)
More than a simple software error, Aldhous’s experience highlights the complexity inherent in consumer genomes. Translating an individual’s saliva sample into a description of genetically influenced traits and risks is a multi-stage process with potential for error at every step in the chain. Or, as Daniel MacArthur of Genetic Future cleverly puts it, “There’s many a slip ‘twixt spit and SNP.”
Crowd-Sourcing vs. Open-Sourcing in Consumer Genomics
The New York Times yesterday described the emerging phenomenon of utilizing patient and online communities to jumpstart scientific research. In a previous post (Genomic Research Goes DTC) I discussed this trend, as well as a number of the legal uncertainties surrounding this new research model, particularly in the case of genomic research conducted by private companies.
That uncertainty is well covered in the Times article, thanks to Bob Cook-Deegan, Director of Duke University’s IGSP Center for Genome Ethics, Law & Policy, who strikes the proper balance in assessing the exciting but untested model of patient-driven research:
“I’m very suspicious of a company that has tons of private data getting too cozy with the drug or biotech industry,” he said. “But I don’t want to say it’s not going to work, because I can see all kinds of value that could come out of this.”
Where I found the article lacking, however, was in its description and presentation of the patient-driven genomic research model. As the Times describes it:
Supporters of this model—sometimes called crowd-sourcing or open-source research—call it democratization of research and say they are pioneering new models that put patients in control of their data and build bridges between researchers, patients and their doctors. (emphasis added)
It all sounds innovative and patient-friendly, but are “crowd-sourcing” and “open-sourcing” really interchangeable concepts? No, and conflating the two terms obscures one of the key features distinguishing patient-driven research from traditional modes of research.
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